Phosphomannomutase 2 Deficiency Clinical Trial
Official title:
Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)
Verified date | January 2022 |
Source | Glycomine, Inc. |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG) This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia).
Status | Active, not recruiting |
Enrollment | 120 |
Est. completion date | December 2024 |
Est. primary completion date | September 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - Informed consent/assent by the patient and/or their legally authorized representative - Confirmed diagnosis of PMM2-CDG, based on enzymatic or molecular tests - Willing and able to adhere to study requirements described in the protocol and consent/assent documents Exclusion Criteria: - Known or suspected differential diagnosis of any other known CDG (not PMM2-CDG) - Currently using investigational drug - Blood loss of >250 mL or donated blood within 56 days, or donated plasma within 7 days, of study screening |
Country | Name | City | State |
---|---|---|---|
Belgium | University Hospital Leuven | Leuven | |
Czechia | General University Hospital in Prague | Prague | |
France | Necker Enfants-Malades Hospital | Paris | |
Italy | University Hospital of Catania | Catania | |
Netherlands | Radboud University Nejmegen Medical Center | Nijmegen | |
Poland | Mother and Child Institute (Instytut Matki i Dziecka) | Warsaw | |
Portugal | Centro Hospitalar do Porto | Porto | |
Spain | Hospital Sant Joan de Déu | Barcelona | |
United States | Tulane University Medical Center | New Orleans | Louisiana |
United States | Children's Hospital of Philadelphia (CHOP) | Philadelphia | Pennsylvania |
United States | Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania |
United States | Mayo Clinic College of Medicine | Rochester | Minnesota |
United States | Seattle Children's Hospital | Seattle | Washington |
Lead Sponsor | Collaborator |
---|---|
Glycomine, Inc. |
United States, Belgium, Czechia, France, Italy, Netherlands, Poland, Portugal, Spain,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | collect clinical and biological information in patients with CDG-PMM2 | up to 4 years |
Status | Clinical Trial | Phase | |
---|---|---|---|
Active, not recruiting |
NCT04925960 -
Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG
|
Phase 3 |